| KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy S Weckhuysen, S Mandelstam, A Suls, D Audenaert, T Deconinck, ... Annals of neurology 71 (1), 15-25, 2012 | 553 | 2012 |
| Recurrent microdeletions at 15q11. 2 and 16p13. 11 predispose to idiopathic generalized epilepsies CGF de Kovel, H Trucks, I Helbig, HC Mefford, C Baker, C Leu, C Kluck, ... Brain 133 (1), 23-32, 2010 | 501 | 2010 |
| Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1 A Suls, P Dedeken, K Goffin, H Van Esch, P Dupont, D Cassiman, ... Brain 131 (7), 1831-1844, 2008 | 380 | 2008 |
| De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies S Appenzeller, R Balling, N Barisic, S Baulac, H Caglayan, D Craiu, ... The American Journal of Human Genetics 95 (4), 360-370, 2014 | 316 | 2014 |
| GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome GL Carvill, S Weckhuysen, JM McMahon, C Hartmann, RS Møller, ... Neurology 82 (14), 1245-1253, 2014 | 312 | 2014 |
| Early‐onset absence epilepsy caused by mutations in the glucose transporter GLUT1 A Suls, SA Mullen, YG Weber, K Verhaert, B Ceulemans, R Guerrini, ... Annals of Neurology: Official Journal of the American Neurological …, 2009 | 302 | 2009 |
| The phenotypic spectrum of SCN8A encephalopathy J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ... Neurology 84 (5), 480-489, 2015 | 286 | 2015 |
| De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy S Syrbe, U Hedrich, E Riesch, T Djémié, S Müller, RS Møller, B Maher, ... Nature genetics 47 (4), 393-399, 2015 | 281 | 2015 |
| De novo variants in neurodevelopmental disorders with epilepsy HO Heyne, T Singh, H Stamberger, R Abou Jamra, H Caglayan, D Craiu, ... Nature genetics 50 (7), 1048-1053, 2018 | 260 | 2018 |
| Dominant‐negative effects of KCNQ2 mutations are associated with epileptic encephalopathy G Orhan, M Bock, D Schepers, EI Ilina, SN Reichel, H Löffler, N Jezutkovic, ... Annals of neurology 75 (3), 382-394, 2014 | 258 | 2014 |
| GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy JR Lemke, R Hendrickx, K Geider, B Laube, M Schwake, RJ Harvey, ... Annals of neurology 75 (1), 147-154, 2014 | 256 | 2014 |
| Early and effective treatment of KCNQ2 encephalopathy T Pisano, AL Numis, SB Heavin, S Weckhuysen, M Angriman, A Suls, ... Epilepsia 56 (5), 685-691, 2015 | 249 | 2015 |
| De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome A Suls, JA Jaehn, A Kecskés, Y Weber, S Weckhuysen, DC Craiu, ... The American Journal of Human Genetics 93 (5), 967-975, 2013 | 247 | 2013 |
| De novo mutations in HCN1 cause early infantile epileptic encephalopathy C Nava, C Dalle, A Rastetter, P Striano, CGF de Kovel, R Nabbout, ... Nature genetics 46 (6), 640-645, 2014 | 245 | 2014 |
| Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients S Weckhuysen, V Ivanovic, R Hendrickx, R Van Coster, H Hjalgrim, ... Neurology 81 (19), 1697-1703, 2013 | 237 | 2013 |
| Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes J Schubert, A Siekierska, M Langlois, P May, C Huneau, F Becker, ... Nature genetics 46 (12), 1327-1332, 2014 | 218 | 2014 |
| A novel GABRG2 mutation associated with febrile seizures D Audenaert, E Schwartz, KG Claeys, L Claes, L Deprez, A Suls, ... Neurology 67 (4), 687-690, 2006 | 209 | 2006 |
| Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations L Deprez, S Weckhuysen, P Holmgren, A Suls, T Van Dyck, D Goossens, ... Neurology 75 (13), 1159-1165, 2010 | 199 | 2010 |
| Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency SA Mullen, A Suls, P De Jonghe, SF Berkovic, IE Scheffer Neurology 75 (5), 432-440, 2010 | 180 | 2010 |
| Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency SA Mullen, A Suls, P De Jonghe, SF Berkovic, IE Scheffer Neurology 75 (5), 432-440, 2010 | 180 | 2010 |
